ZNF512

zinc finger protein 512, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 2:27582969-27623217

Links

ENSG00000243943 ∙ NCBI:84450 ∙ ∙ HGNC:29380 ∙ Uniprot:Q96ME7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF512 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF512 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			13	1		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	14	1	0

Variants in ZNF512

This is a list of pathogenic ClinVar variants found in the ZNF512 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-27583126-T-C		not specified	Uncertain significance (Jun 02, 2024)
2-27598113-A-G		not specified	Uncertain significance (May 09, 2022)
2-27598167-G-T		not specified	Uncertain significance (Apr 23, 2024)
2-27598246-A-G		not specified	Uncertain significance (Sep 06, 2022)
2-27599606-G-C		not specified	Uncertain significance (Feb 15, 2023)
2-27599607-G-A		not specified	Uncertain significance (Jun 07, 2023)
2-27600694-G-T		not specified	Uncertain significance (Mar 16, 2024)
2-27601373-T-A		not specified	Uncertain significance (Feb 10, 2022)
2-27603141-G-C		not specified	Uncertain significance (Dec 20, 2023)
2-27607869-C-G		not specified	Uncertain significance (Oct 06, 2021)
2-27607909-G-A		not specified	Uncertain significance (Aug 16, 2021)
2-27607910-T-G		not specified	Uncertain significance (Mar 22, 2023)
2-27615249-C-T		not specified	Uncertain significance (Feb 05, 2024)
2-27617486-C-T		not specified	Uncertain significance (May 17, 2023)
2-27617543-A-G		not specified	Uncertain significance (May 01, 2023)
2-27621162-G-A		not specified	Uncertain significance (Mar 07, 2023)
2-27621277-G-A		not specified	Uncertain significance (Oct 28, 2023)
2-27621306-A-G		not specified	Likely benign (Sep 29, 2023)
2-27621342-A-G		not specified	Uncertain significance (May 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF512	protein_coding	protein_coding	ENST00000355467	14	52145

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.977	0.0235	125743	0	3	125746	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.41	193	313	0.616	0.0000164	3714
Missense in Polyphen		71	145.31	0.48861		1782
Synonymous	0.293	106	110	0.964	0.00000548	1044
Loss of Function	4.57	5	33.6	0.149	0.00000172	407

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Intolerance Scores

• loftool: 0.160
• rvis_EVS: -0.87
• rvis_percentile_EVS: 10.65

Haploinsufficiency Scores

• pHI: 0.524
• hipred: Y
• hipred_score: 0.532
• ghis: 0.639

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.438

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Zfp512

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding